Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Renal carnitine transport defect
CUI: C0342788
Disease: Renal carnitine transport defect
123 0.882 0.280 5 132370067 missense variant A/G snv 2.4E-05 2.1E-05 0.800 1.000 24 1999 2017
PREMATURE CENTROMERE DIVISION
CUI: C1859308
Disease: PREMATURE CENTROMERE DIVISION
2 0.882 0.280 5 132370067 missense variant A/G snv 2.4E-05 2.1E-05 0.010 1.000 1 2019 2019
Primary Ciliary Dyskinesia
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
10 0.882 0.280 5 132370067 missense variant A/G snv 2.4E-05 2.1E-05 0.010 1.000 1 2019 2019